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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Marfanoid Mental Retardation Syndrome, Autosomal
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Accession:DOID:9006754 term browser browse the term
Synonyms:exact_synonym: marfanoid habitus and intellectual disability
 primary_id: MESH:C565410
 alt_id: MIM:248770


show annotations for term's descendants           Sort by:
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:36135330 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25533962 PMID:25741868 PMID:28726809 PMID:32277047 PMID:33768696 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686 		JBrowse link
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:5,255,521...5,346,807
Ensembl chr12:5,255,740...5,346,810 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G Begain brain-enriched guanylate kinase-associated ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:127,943,651...127,979,876
Ensembl chr 6:127,943,651...127,979,841 		JBrowse link
G Cdh5 cadherin 5 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368 		JBrowse link
G Cdhr2 cadherin-related family member 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,876,853...9,913,356
Ensembl chr17:9,876,860...9,912,575 		JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28807008 More... NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30397230 NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047 		JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28288114 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
G Cldn11 claudin 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dbn1 drebrin 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415 		JBrowse link
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:29460436 PMID:33597769 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dok3 docking protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,109,633...9,115,188
Ensembl chr17:9,109,597...9,115,188 		JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:32277047 PMID:36250449 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		JBrowse link
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137 		JBrowse link
G Emilin3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:149,558,785...149,564,785
Ensembl chr 3:149,558,970...149,564,785 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,947,211...9,989,474
Ensembl chr17:9,947,220...9,989,485 		JBrowse link
G Fam193b family with sequence similarity 193, member B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,066,818...9,099,511
Ensembl chr17:9,066,707...9,099,508 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30057029 NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242 		JBrowse link
G Fkbp8 FKBP prolyl isomerase 8 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Glt8d2 glycosyltransferase 8 domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:21,029,534...21,081,081
Ensembl chr 7:21,029,525...21,081,080 		JBrowse link
G Gprin1 G protein-regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,863,881...9,876,832
Ensembl chr17:9,863,571...9,876,915 		JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194 		JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265 		JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473 		JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:44,500,326...44,560,624
Ensembl chr 2:44,461,444...44,560,627 		JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Nfib nuclear factor I/B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30388402 NCBI chr 5:96,759,208...96,974,001
Ensembl chr 5:96,764,653...96,975,479 		JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
G Nkap NFKB activating protein ISO DNA:missense mutations:exon 8-9:multiple (human) RGD PMID:31587868 RGD:155641252 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:32277047 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:76,050,683...76,093,972
Ensembl chr13:76,053,127...76,093,972 		JBrowse link
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:7981714 PMID:8268925 PMID:8533759 PMID:8830172 PMID:8981952 More... NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Pdlim7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,124,565...9,139,814
Ensembl chr17:9,124,649...9,139,811 		JBrowse link
G Pfn3 profilin 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,217,595...9,218,122 JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557 		JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407 		JBrowse link
G Prr7 proline rich 7 (synaptic) ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,164,375...9,173,669
Ensembl chr17:9,165,269...9,172,536 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,308,471...9,310,553
Ensembl chr17:9,308,525...9,310,553 		JBrowse link
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:147,062,443...147,152,090
Ensembl chr 3:147,062,364...147,152,090 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033 		JBrowse link
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104 		JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,919,982...9,934,376
Ensembl chr17:9,919,993...9,932,193 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Sidt1 SID1 transmembrane family, member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:56,362,788...56,459,939
Ensembl chr11:56,363,512...56,459,050 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Spag9 sperm associated antigen 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:78,943,439...79,077,797
Ensembl chr10:78,943,479...79,077,797 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:29419869 PMID:30334930 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:26637982 NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041 		JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,029,646...9,034,160
Ensembl chr17:9,029,646...9,034,176 		JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526 		JBrowse link
G Wscd2 WSC domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:43,046,547...43,141,115
Ensembl chr12:43,048,043...43,088,591 		JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862 		JBrowse link
G Zbtb20 zinc finger and BTB domain containing 20 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:57,052,129...57,791,214
Ensembl chr11:57,072,880...57,510,210 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:9,493,787...9,523,681
Ensembl chr17:9,493,803...9,523,635 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      Marfan syndrome 233
        Marfanoid Mental Retardation Syndrome, Autosomal 97
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    Marfanoid Mental Retardation Syndrome, Autosomal 97
paths to the root